title: Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?
abstract: BACKGROUND
  We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages.
  
  
  METHODS
  We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin.
  
  
  RESULTS
  The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them.
  
  
  CONCLUSIONS
  Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.
authors.affiliation: Sección Neuropediatría, Hospital Universitario Miguel Servet, Zaragoza, España. jlopezpi@salud.aragon.es
authors.forename: J
authors.initials: J
authors.lastname: López Pisón
authors.forename: M C
authors.initials: MC
authors.lastname: García Jiménez
authors.forename: M
authors.initials: M
authors.lastname: Lafuente Hidalgo
authors.forename: R
authors.initials: R
authors.lastname: Pérez Delgado
authors.forename: L
authors.initials: L
authors.lastname: Monge Galindo
authors.forename: R
authors.initials: R
authors.lastname: Cabrerizo de Diago
authors.forename: V
authors.initials: V
authors.lastname: Rebage Moisés
authors.forename: J L
authors.initials: JL
authors.lastname: Peña Segura
authors.forename: A
authors.initials: A
authors.lastname: Baldellou Vázquez
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000503:physiopathology; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011296:Prenatal Diagnosis